Lois A. Tully

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PURPOSE This article reports on recommendations arising from an invitational workshop series held at the National Institutes of Health for the purposes of identifying critical genomics problems important to the health of the public that can be addressed through nursing science. The overall purpose of the Genomic Nursing State of the Science Initiative is to(More)
Human mitochondrial DNA (mtDNA) mutations are important for forensic identifications and mitochondrial disease diagnostics. Low-frequency mutations, heteroplasmies, or SNPs scattered throughout the DNA in the presence of a majority of mtDNA with the Cambridge Reference Sequence (CRS) are almost impossible to detect. Therefore, the National Institute of(More)
In 1966, a male (17 years old) was clinically examined at the National Institutes of Health (NIH) and diagnosed with Idiopathic Progressive External Ophthalmoplegia (IPEO). A muscle biopsy showing ragged-red fibers implicated mitochondrial involvement. Since the sequence of human mitochondrial DNA (mtDNA) was not determined until 1981, no genetic(More)
Background: As genetic information moves from basic research laboratories in to the clinical testing environment, there is a critical need for reliable reference materials for the quality assurance of genetic tests. A panel of 12 plasmid clones containing wild-type or point mutations within exons 5–9 have been developed as reference materials for the(More)
Mitochondrial DNA (mtDNA) sequence analysis of the hypervariable control region has been shown to be an effective tool for human identification. The high copy number and maternal mode of inheritance make mtDNA analysis particularly useful when advanced age or degradation of biological evidence prohibits the detection of nuclear DNA polymorphisms.(More)
The goal of the NIH Science of Behavior Change (SOBC) Common Fund Program is to provide the basis for an experimental medicine approach to behavior change that focuses on identifying and measuring the mechanisms that underlie behavioral patterns we are trying to change. This paper frames the development of the program within a discussion of the substantial(More)
is currently a research chemist at the National Institute of Standards and Technology and principle investigator on an NIJ-funded project to further develop multiplex PCR and time-of-flight mass spectrometry for future forensic DNA typing assays. He was the first to demonstrate that short tandem repeat typing could be performed with capillary(More)
Background: Numerous DNA-based tests are currently in use or under development for the detection of mutations associated with disease. Most of the current methods use PCR amplification technologies and detection after separation or chromatography of the products. We have developed a panel of standard reference materials consisting of 12 plasmid clones(More)
This paper discusses results of a supercritical fluid extraction-gas chromatography/mass spectrometry (SFE-GC/MS) study of small samples ( 100 microg to 1 mg) of human scalp hair. The method offers a number of benefits including greater sensitivity than liquid extraction methods because the entire extractable mass is transferred to the analytical system,(More)